Canonical Allele Identifier:
CA155835476
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004769 (NFE)
Genomes Max Group AF
0.00004769 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.24338421G>C , CM000669.2:g.24338421G>C | GRCh38 |
| NC_000007.13:g.24378040G>C , CM000669.1:g.24378040G>C | GRCh37 |
| NC_000007.12:g.24344565G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_017012910.1:c.-88-18936C>G | XP_016868399.1:n.-88-18936C>G | |
| XM_017012911.1:c.-88-18936C>G | XP_016868400.1:n.-88-18936C>G | |
| XR_001745121.1:n.345-18936C>G | ||
| XR_001745122.1:n.344+106638C>G | ||
| XR_001745123.1:n.345-18936C>G | ||
| XR_001745124.1:n.345-18936C>G | ||
| XR_001745125.1:n.345-18936C>G | ||
| XR_001745126.1:n.345-18936C>G | ||
| XR_001745127.1:n.345-82722C>G | ||
| XR_001745129.1:n.345-18936C>G | ||
| XR_001745130.1:n.345-18936C>G | ||
| XR_001745131.1:n.345-18936C>G | ||
| XR_001745132.1:n.345-18936C>G |